ESPE Abstracts

Background: Growth retardation as well as metabolic and endocrine derangements are of utmost importance among the sickle cell disease (SCD) population.Objective: To determine the growth pattern in a cohort of Egyptian children with SCD and to determine the impact of endocrine complications and nutritional status on their growth pattern.Subjects and Methods: This study was a prospec...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. It is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism, that causes incomplete, delayed, and sometimes disordered pubertal development.1 Precocious puberty is very rare in PWS. We report a girl with PWS and idiopathic p...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 ± 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

Background: COVID-19 restriction measurements have enhanced the obesity status in the pediatric population which might further contribute to obesity related glucose-insulin metabolism alterations. Therefore, we retrospectively compared anthropometric and OGTT data on obese children during the 13 years before and during the COVID-19 pandemic period.Subjects/Methods: Data from 741 obese/overweight children were retrieved a...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...

Introduction: Graves’ diseases is a rare autoimmune disease in children. Viral infections are considered as a trigger for autoimmune thyroid disorders. A temporal association between SARS-CoV-2 and a novel pediatric hyperinflammatory condition called Paediatric inflammatory multisystem syndrome has been reported in 2020, raising questions about the link between SARS-CoV-2 and autoimmune and autoinflammatory diseases. Over the last year (2021), we noticed...

Background: Celiac disease (CD) is an important association with type 1 diabetes (T1DM) with a significant impact on growth and glycaemic control. The frequency of coexistence of T1DM and CD is widely described, ranging from 2.5 to 16.4% in 23 studies worldwide, much greater than the general population risk of 1%. The risk of CD is higher among younger children (less than 4 years), females and during the first few years of T1DM diagnosis. Objectives: We aimed ...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...